Tumor fibroso calcificante intestinal: reporte de caso / Intestinal calcifying fibrous tumor: case report

El tumor fibroso calcificante (TFC) es una inusual lesión benigna de origen mesenquimal que puede presentar características similares a otros tumores más comunes. El caso involucra a una mujer de 36 años con un tumor en el yeyuno proximal, inicialmente sospechoso de ser un tumor del estroma gastrointestinal (GIST). Se realiza una resección quirúrgica, revelando un nódulo bien delimitado en el borde antimesentérico con características microscópicas típicas de TFC. Las células tumorales presentaban positividad para CD34 y negatividad para demás marcadores, diferenciándolo de otras neoplasias. El TFC puede confundirse con tumores más comunes debido a su apariencia, pero un diagnóstico preciso respaldado por inmunohistoquímica es esencial. La extirpación quirúrgica completa suele ser curativa. (AU)

Calcifying fibrous tumor (CFT) is a rare benign lesion of mesenchymal origin that may present similar characteristics to other more common tumors. We present the case of a 36-year-old woman with a tumor in the proximal jejunum, initially suspected to be a gastrointestinal stromal tumor (GIST). Surgical resection was performed, revealing a well-demarcated nodule at the anti-mesenteric border with microscopic features typical of a calcifying fibrous tumor. The tumor cells were positive for CD34 and negative for other markers, differentiating it from other neoplasms. Calcifying fibrous tumors can be confused with more common tumors because of its appearance, but an accurate diagnosis supported by immunohistochemistry is essential. Complete surgical excision is usually curative. (AU)

[Intestinal calcifying fibrous tumor: case report]. / Tumor fibroso calcificante intestinal: reporte de caso.

Calcifying fibrous tumor (CFT) is a rare benign lesion of mesenchymal origin that may present similar characteristics to other more common tumors. We present the case of a 36-year-old woman with a tumor in the proximal jejunum, initially suspected to be a gastrointestinal stromal tumor (GIST). Surgical resection was performed, revealing a well-demarcated nodule at the anti-mesenteric border with microscopic features typical of a calcifying fibrous tumor. The tumor cells were positive for CD34 and negative for other markers, differentiating it from other neoplasms. Calcifying fibrous tumors can be confused with more common tumors because of its appearance, but an accurate diagnosis supported by immunohistochemistry is essential. Complete surgical excision is usually curative.

Tumor condromixoide ectomesenquimal: uma revisão sistemática e análise molecular de um caso extralingual / Ectomesenchymal chondromyxoid tumor: a systematic review and molecular analysis of an extra-lingual case

O tumor condromixoide ectomesenquimal (TCE) é uma neoplasia benigna rara, que afeta principalmente a língua e que exibe alta frequência da fusão RREB1-MRTFB. Microscopicamente, o TCE se assemelha com outras lesões condromixoides, sendo o mioepitelioma um dos principais desafios de diferenciação. Seu diagnóstico requer além da análise microscópica, a imuno-histoquímica. Revisões narrativas sobre o TCE já realizadas não contemplam uma análise sistemática da literatura. A fusão RREB1- MRTFB apesar de frequente em língua, foi positiva em um caso intra-ósseo, não tendo sido ainda descrita nos tecidos moles orais extra lingual. Sendo assim, o objetivo desse estudo foi sistematizar os dados da literatura com ênfase na microscopia do TCE, e relatar um caso extra lingual investigando a fusão RREB1-MRTFB. Uma busca eletrônica em 5 bases foi realizada em dezembro de 2021. Um total de 44 artigos com 101 casos de TCE foram incluídos. Microscopicamente, o TCE mostrou-se não encapsulado (95,5%), porém circunscrito (89,2%), de aspecto lobular (70,6%), entremeado por septos fibrosos (98%), sendo uma proliferação sólida em lençol, ilhas ou cordões (98%), em um padrão reticular (98,3%), cujas células eram fusiformes (77,5%), redondas e ovoides (70,6%) ou poligonais (54,9%), com citoplasma eosinofílico (34,3%), imersas em uma matriz mixoide (97,0%), condroide (88,0%) ou mixocondroide (X%). Na imuno-histoquímica as células mostraram maior positividade para vimentina (100%), GFAP (88,9%), S-100 (85,7%), CD56 (76,9%) e CD57 (75%). A fusão RREB1-MRTFB ocorreu em n=20/23; 87,0%. O presente caso clínico relatado é de um nódulo em face lingual da mandíbula em jovem de 15 anos, cuja morfologia mostrava as características mais frequentemente identificadas na revisão sistemática. A análise molecular confirmou o diagnóstico de TCE. O estudo contribui para um detalhamento das características morfológicas diagnósticas do TCE, bem como expandiu o conhecimento molecular do tumor em um caso extra lingual de um indivíduo brasileiro.

The ectomesenchymal chondromyxoid tumor (ECMT) is a rare benign neoplasm that mainly affects the tongue and exhibits a high frequency of the RREB1-MRTFB fusion. Microscopically, ECMT resembles other chondromyxoid lesions, with myoepithelioma being one of the main differentiation challenges. Its diagnosis requires not only microscopic analysis but also immunohistochemistry. Narrative reviews on ECMT conducted so far do not encompass a systematic analysis of the literature. The RREB1-MRTFB fusion, despite being frequent in the tongue, has been tested positive in an intraosseous case, and it has not yet been described in extra-lingual oral soft tissues.Therefore, the aim of this study was to systematize the literature data with an emphasis on ECMT microscopy and report an extra-lingual case investigating the RREB1-MRTFB fusion. An electronic search across 5 databases was conducted in December 2021. A total of 44 articles comprising 101 cases of ECMT were included. Microscopically, ECMT was found to be non-encapsulated (95.5%), yet circumscribed (89.2%), exhibiting a lobular appearance (70.6%), interspersed with fibrous septa (98%), forming a solid proliferation in sheets, strands and cords (98%) in a reticular pattern (98.3%). The cells were spindle-shaped (77.5%), round and ovoid (70.6%), or polygonal (54.9%), with eosinophilic cytoplasm (34.3%), embedded in a myxoid matrix (97.0%), and chondroid (88.0%). Immunohistochemically, there was higher positivity for vimentin (100%), GFAP (88.9%), S-100 (85.7%), CD56 (76.9%), and CD57 (75%). The RREB1-MRTFB fusion occurred in n=20/23; 87,0%. The present clinical case reportes a nodule on the lingual aspect of the mandible in a 15-year-old individual, whose morphology exhibited the most frequently identified characteristics in the systematic review. The molecular analysis confirmed the diagnosis of ECMT. The present study not only contributes to a detailed understanding of the morphological diagnostic features of ECMT but also expands the molecular knowledge of the tumor based in an extra-lingual case of a Brazilian individual.

Recurrent meningeal malignant tumor: Assessment of differences in the solitary fibrous tumor/hemangiopericytoma spectrum through a case report / Tumor maligno recurrente de origen meníngeo: evaluación de las diferencias de la entidad tumor fibroso solitario/hemangiopericitoma mediante un caso clínico

Solitary fibrous tumors (SFTs) are neoplasms that grow from mesenchymal fusiform cells. In the central nervous system, meninges are the common origin of these neoplasms. Although literature reports mostly SFT as benign neoplasm, malignancy data have been described in recurrences or metastatic lesions. Definitive diagnosis includes immunohistochemical profiles assessing cellular positivity for CD34, vimentin, CD99 and Bcl-2. Recent studies have demonstrated NAB2-STAT6 gene fusion as a distinct molecular feature of SFT with overexpression of the fusion protein NAB2-STAT6 in nuclei of these cells. Since several years, pathologists have grouped SFT and hemangiopericytomas (HPC) as different phenotypes of the same entity although both neoplasms do not share numerous features. This article, based on a case of a recurrent malignant SFT, aims to emphasize differences in the SFT/HPC spectrum due to the diagnostic, therapeutic and prognostic implications (AU)

Los tumores fibrosos solitarios (TFS) son neoplasias que crecen a partir de células mesenquimales y las meninges constituyen su origen preferente en el sistema nervioso central. Aunque la literatura relaciona la mayoría de los TFS como neoplasias benignas, se describen datos de malignidad en recidivas tumorales o lesiones metastásicas. El diagnóstico definitivo incluye el perfil inmunohistoquímico, que evalúa la positividad celular para CD34, vimentina, CD99 y Bcl-2. Estudios recientes han demostrado la fusión del gen NAB2-STAT6 como una característica molecular distintiva de los TFS, con sobreexpresión de la proteína de fusión NAB2-STAT6 en los núcleos de las células. Los patólogos han agrupado los TFS y los hemangiopericitomas como diferentes fenotipos de una misma entidad, aunque ambas neoplasias no comparten numerosas características. Este artículo, basado en un caso de una lesión maligna recurrente, tiene como objetivo enfatizar las diferencias en el espectro SFT/hemangiopericitoma por sus implicaciones diagnósticas, terapéuticas y pronósticas (AU)

Recurrent meningeal malignant tumor: Assessment of differences in the solitary fibrous tumor/hemangiopericytoma spectrum through a case report.

Solitary fibrous tumors (SFTs) are neoplasms that grow from mesenchymal fusiform cells. In the central nervous system, meninges are the common origin of these neoplasms. Although literature reports mostly SFT as benign neoplasm, malignancy data have been described in recurrences or metastatic lesions. Definitive diagnosis includes immunohistochemical profiles assessing cellular positivity for CD34, vimentin, CD99 and Bcl-2. Recent studies have demonstrated NAB2-STAT6 gene fusion as a distinct molecular feature of SFT with overexpression of the fusion protein NAB2-STAT6 in nuclei of these cells. Since several years, pathologists have grouped SFT and hemangiopericytomas (HPC) as different phenotypes of the same entity although both neoplasms do not share numerous features. This article, based on a case of a recurrent malignant SFT, aims to emphasize differences in the SFT/HPC spectrum due to the diagnostic, therapeutic and prognostic implications.

[Lipoblastoma-like tumor of the vulva: A case report and review of the literature]. / Tumor vulvar similar a lipoblastoma: descripción de un nuevo caso y revisión de la literatura.

Lipoblastoma-like tumor of the vulva (LBLTV) was first described as a benign mesenchymal neoplasia; it was not recognized as a separate diagnosis in the 2013 WHO classification of soft-tissue tumors. To date, only 19 cases have been reported. LBLTV differential diagnosis includes other tumors of the vulvoperineal region and tumors with adipocytic differentiation, most of which are benign and thus a misdiagnosis has few clinical consequences. However, LBLTV may also mimic some aggressive lipomatous neoplasms. We describe a case of LBLTV in a 28 year-old woman and review the literature.

Tumor vulvar similar a lipoblastoma: descripción de un nuevo caso y revisión de la literatura / Lipoblastoma-like tumor of the vulva: A case report and review of the literature

El tumor vulvar similar a lipoblastoma (LBLTV) fue descrito inicialmente como una neoplasia mesenquimal benigna. Desde entonces, se han reportado únicamente 19 casos. Además, esta entidad no ha sido reconocida aún como diagnóstico separado en la clasificación de la OMS (2013) de los tumores de tejido blando. El diagnóstico diferencial de LBLTV incluye otros tumores de la región vulvoperineal, así como tumores con diferenciación adipocítica, la mayoría de ellos benignos. Por tanto, un diagnóstico erróneo aporta pocas consecuencias clínicas. Sin embargo, LBLTV puede imitar también algunas neoplasias lipomatosas agresivas. Describimos aquí un nuevo caso de LBLTV en una mujer de 28 años, así como una revisión de la literatura.(AU)

Lipoblastoma-like tumor of the vulva (LBLTV) was first described as a benign mesenchymal neoplasia; it was not recognized as a separate diagnosis in the 2013 WHO classification of soft-tissue tumors. To date, only 19 cases have been reported. LBLTV differential diagnosis includes other tumors of the vulvoperineal region and tumors with adipocytic differentiation, most of which are benign and thus a misdiagnosis has few clinical consequences. However, LBLTV may also mimic some aggressive lipomatous neoplasms. We describe a case of LBLTV in a 28 year-old woman and review the literature.(AU)

Imunoexpressão das proteínas EGFR e VEGF em lipomas de cavidade oral / Immunoexpression of EGFR and VEGF proteins in oral cavity lipomas

Lipomas são as neoplasias mesênquimais benignas mais comuns. Apresentam predileção pelo tronco, ombros, pescoço e axila, sendo raro nas mãos, parte inferior das pernas e pés. A região de cabeça e pescoço é responsável por 20% dos casos. A cavidade oral é responsável por 1-4% de todos os tumores, afeta de maneira semelhante o sexo feminino e masculino, acometendo ampla faixa etária. A etiopatogênia desse tumor ainda permanece desconhecida, dessa forma, essa pesquisa teve como objetivo detectar, quantificar e comparar a expressão imunoistoquímica do EGFR, VEGF e contagem microvascular (MVC) dos lipomas orais, relacionando-os com as características clínicas e morfológicas dos casos estudados. A amostra foi composta por 54 lipomas orais (33 clássicos e 21 não clássicos) e 23 casos de tecido adiposo normal. A análise da expressão imunoistoquímica de EGFR e VEGF foi fundamentada na marcação da membrana citoplasmática e/ou núcleo. O índice angiogênico foi avaliado por meio da contagem microvascular (MVC). A contagem de células foi realizada utilizando software IMAGE J®. Os dados obtidos foram analisados no software Statistical Package for Social Science. O nível se significância de 5% foi adotado para os testes estatísticos (p ≤ 0,05). A Análise da imunoexpressão das proteínas revelou para o EGFR diferença estatisticamente significativa (p=0,041) entre o lipoma clássico e o tecido adiposo normal. Com relação a contagem de microvasos, o CMV dos lipomas não clássico apresentou diferença estatisticamente significativa (p=0,018) em relação ao tecido adiposo normal. Nos lipomas não clássicos, apenas a imunoexpressão de VEGF esteve diretamente proporcional a CMV encontrado na neoplasia, com correlação do tipo moderada, positiva e significativa (p=0,010). Ademais, nos lipomas clássicos foi percebido que os adipócitos imunomarcados para EGFR estiveram diretamente proporcionais a imunoexpressão de VEGF, isso deve-se a correlação do tipo moderada, positiva e estatisticamente significativa (p = 0,005). Com base nos resultados, pode-se concluir que apesar do EGFR, VEGFR e CMV participarem do desenvolvimento neoplásico, é possível sugerir que nos lipomas, essas proteínas e o CMV não estejam primariamente envolvidos no crescimento tumoral (AU).

Lipomas are the most common benign mesenchymal neoplasms. They have a predilection for the trunk, shoulders, neck and armpit, being rare in the hands, lower legs and feet. The head and neck region accounts for 20% of cases. The oral cavity is responsible for 1-4% of all tumors, affecting females and males in a similar way, affecting a wide age range. The etiopathogenesis of this tumor remains unknown, therefore, this research aimed to detect, quantify and compare the immunohistochemical expression of EGFR, VEGF and microvascular count (MVC) of oral lipomas, relating them to the clinical and morphological characteristics of the cases studied . The sample consisted of 54 oral lipomas (33 classic and 21 non-classical) and 23 cases of normal adipose tissue. The analysis of the immunohistochemical expression of EGFR and VEGF was based on cytoplasmic membrane and/or nucleus labeling. The angiogenic index was assessed using microvascular count (MVC). Cell counting was performed using IMAGE J® software. The data obtained were analyzed using the Statistical Package for Social Science software. A significance level of 5% was adopted for statistical tests (p ≤ 0.05). Analysis of protein immunoexpression revealed a statistically significant difference (p=0.041) for EGFR between classic lipoma and normal adipose tissue. Regarding microvessel count, the CMV of non-classic lipomas showed a statistically significant difference (p=0.018) in relation to normal adipose tissue. In non-classical lipomas, only VEGF immunoexpression was directly proportional to the CMV found in the neoplasm, with a moderate, positive and significant correlation (p=0.010). Furthermore, in classical lipomas it was noticed that adipocytes immunolabeled for EGFR were directly proportional to VEGF immunoexpression, this is due to the moderate, positive and statistically significant correlation (p = 0.005). Based on the results, it can be concluded that although EGFR, VEGFR and CMV participate in neoplastic development, it is possible to suggest that in lipomas, these proteins and CMV are not primarily involved in tumor growth (AU).

Ileal Intussusception in an Adult Caused by a Locally Invasive Inflammatory Fibroid Polyp: A Case Report.

Inflammatory fibroid polyps (IFPs) are rare mesenchymal neoplasms affecting the gastrointestinal tract which are considered benign and noninvasive. We present a case of an invasive IFP in a 46-year-old woman who presented with signs of intestinal obstruction due to ileal intussusception. A segment of the small intestine was resected and subsequently intestinal continuity was restored. A polypoid lesion was found obstructing the lumen. Histopathology revealed a mesenchymal proliferation of spindle and stellate cells, without cytological atypia, arranged in a fibromyxoid stroma. The tumor cells were located in the submucosa but also infiltrated the muscularis propria and the subserosa and were CD34 positive. The molecular study by PCR showed mutation in exon 12 of the PDGFRA gene. IFP is considered a true neoplasm and can also be considered as a potentially invasive lesion.